Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.992749467950885 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
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analysed issue analysis result
name of alteration no title
alteration (phys. location) chr17:39883672G>AN/A show variant in all transcripts   IGV
HGNC symbol HAP1
Ensembl transcript ID ENST00000310778
Genbank transcript ID N/A
UniProt peptide P54257
alteration type single base exchange
alteration region CDS
DNA changes c.1309C>T
cDNA.1319C>T
g.7225C>T
AA changes R437W Score: 101 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 437
frameshift no
known variant Reference ID: rs11867808
databasehomozygous (A/A)heterozygousallele carriers
1000G1609271087
ExAC61832040126584
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.0080.884
0.2340.885
(flanking)0.0890.892
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased7227wt: 0.9964 / mu: 0.9964 (marginal change - not scored)wt: CTGCGGGAGAAGTAC
mu: CTGTGGGAGAAGTAC		 GCGG|gaga
distance from splice site 34
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      437SVWVGSQLQDLREKYMDCGGMLIE
mutated  not conserved    437SVWVGSQLQDLWEKYMDCGGMLI
Ptroglodytes  no homologue    
Mmulatta  no homologue    
Fcatus  all identical  ENSFCAG00000002132  425NLQVASQLQDLREKYTERGGMLT
Mmusculus  not conserved  ENSMUSG00000006930  390SLRAGSYMQDYGSRPRD------
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  all conserved  ENSDARG00000074508  287-------LKELQERY
Dmelanogaster  all conserved  FBgn0262872  492FKQRYEEVLALLH
Celegans  all identical  T27A3.1  135LLRVYSHLDDDGLPRSNSDEALRERLKSTKSENE
Xtropicalis  not conserved  ENSXETG00000012489  405-------LQYLLEKHKECEDMLH
protein features
start (aa)end (aa)featuredetails 
106461DOMAINHAP1 N-terminal.lost
261601COMPBIASGlu-rich.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2016 / 2016
position (AA) of stopcodon in wt / mu AA sequence 672 / 672
position of stopcodon in wt / mu cDNA 2026 / 2026
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 11 / 11
chromosome 17
strand -1
last intron/exon boundary 1573
theoretical NMD boundary in CDS 1512
length of CDS 2016
coding sequence (CDS) position 1309
cDNA position
(for ins/del: last normal base / first normal base)		 1319
gDNA position
(for ins/del: last normal base / first normal base)		 7225
chromosomal position
(for ins/del: last normal base / first normal base)		 39883672
original gDNA sequence snippet GTTCCCAGCTGCAGGACCTGCGGGAGAAGTACATGGATTGT
altered gDNA sequence snippet GTTCCCAGCTGCAGGACCTGTGGGAGAAGTACATGGATTGT
original cDNA sequence snippet GTTCCCAGCTGCAGGACCTGCGGGAGAAGTACATGGATTGT
altered cDNA sequence snippet GTTCCCAGCTGCAGGACCTGTGGGAGAAGTACATGGATTGT
wildtype AA sequence MRPKRLGRCC AGSRLGPGDP AALTCAPSPS ASPAPEPSAQ PQARGTGQRV GSRATSGSQF
LSEARTGARP ASEAGAKAGA RRPSAFSAIQ GDVRSMPDNS DAPWTRFVFQ GPFGSRATGR
GTGKAAGIWK TPAAYVGRRP GVSGPERAAF IRELEEALCP NLPPPVKKIT QEDVKVMLYL
LEELLPPVWE SVTYGMVLQR ERDLNTAARI GQSLVKQNSV LMEENSKLEA LLGSAKEEIL
YLRHQVNLRD ELLQLYSDSD EEDEDEEEEE EEKEAEEEQE EEEAEEDLQC AHPCDAPKLI
SQEALLHQHH CPQLEALQEK LRLLEEENHQ LREEASQLDT LEDEEQMLIL ECVEQFSEAS
QQMAELSEVL VLRLENYERQ QQEVARLQAQ VLKLQQRCRM YGAETEKLQK QLASEKEIQM
QLQEESVWVG SQLQDLREKY MDCGGMLIEM QEEVKTLRQQ PPVSTGSATH YPYSVPLETL
PGFQETLAEE LRTSLRRMIS DPVYFMERNY EMPRGDTSSL RYDFRYSEDR EQVRGFEAEE
GLMLAADIMR GEDFTPAEEF VPQEELGAAK KVPAEEGVME EAELVSEETE GWEEVELELD
EATRMNVVTS ALEASGLGPS HLDMNYVLQQ LANWQDAHYR RQLRWKMLQK GECPHGALPA
ASRTSCRSSC R*
mutated AA sequence MRPKRLGRCC AGSRLGPGDP AALTCAPSPS ASPAPEPSAQ PQARGTGQRV GSRATSGSQF
LSEARTGARP ASEAGAKAGA RRPSAFSAIQ GDVRSMPDNS DAPWTRFVFQ GPFGSRATGR
GTGKAAGIWK TPAAYVGRRP GVSGPERAAF IRELEEALCP NLPPPVKKIT QEDVKVMLYL
LEELLPPVWE SVTYGMVLQR ERDLNTAARI GQSLVKQNSV LMEENSKLEA LLGSAKEEIL
YLRHQVNLRD ELLQLYSDSD EEDEDEEEEE EEKEAEEEQE EEEAEEDLQC AHPCDAPKLI
SQEALLHQHH CPQLEALQEK LRLLEEENHQ LREEASQLDT LEDEEQMLIL ECVEQFSEAS
QQMAELSEVL VLRLENYERQ QQEVARLQAQ VLKLQQRCRM YGAETEKLQK QLASEKEIQM
QLQEESVWVG SQLQDLWEKY MDCGGMLIEM QEEVKTLRQQ PPVSTGSATH YPYSVPLETL
PGFQETLAEE LRTSLRRMIS DPVYFMERNY EMPRGDTSSL RYDFRYSEDR EQVRGFEAEE
GLMLAADIMR GEDFTPAEEF VPQEELGAAK KVPAEEGVME EAELVSEETE GWEEVELELD
EATRMNVVTS ALEASGLGPS HLDMNYVLQQ LANWQDAHYR RQLRWKMLQK GECPHGALPA
ASRTSCRSSC R*
speed 0.89 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project